Results 61 to 70 of about 2,491 (128)

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders. [PDF]

Genes (Basel)
Di Pede A, Magliozzi M, Valfré L, Dentici ML, Pugnaloni F, Alesi V, Conforti A, Capolupo I, Braguglia A, Dotta A, Bagolan P, Novelli A, Digilio MC.   +12 more
europepmc   +1 more source

Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report. [PDF]

Cureus
Sadler ZA, Unger MD.
europepmc   +1 more source

Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report. [PDF]

Cureus
Salah Alkooheji A, Nicola Kalis N, Koç G, AlAmer S, Arulselvam V.   +4 more
europepmc   +1 more source

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +1 more source

Spontaneous Left Main Coronary Artery Dissection in a Male. [PDF]

Cureus
Chopra L, Maenza J, Chang CC, Rashid SMI, Kanei Y.   +4 more
europepmc   +1 more source

A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q. [PDF]

Spine Surg Relat Res
Fukase Y, Watanabe K, Takeda K, Okubo T, Suzuki S, Tsuji O, Nagoshi N, Yagi M, Nakamura M.   +8 more
europepmc   +1 more source

A rare encounter: Navigating airway challenges in Van den Ende-Gupta syndrome. [PDF]

J Anaesthesiol Clin Pharmacol
Jha S, Ayub A, Ashwin M, Vignesh V.
europepmc   +1 more source

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T. [PDF]

Cureus
Finsterer J, Barwari A.
europepmc   +1 more source

Open Thoracoabdominal Aortic Replacement in a Long-Term Survivor of Early-Onset Marfan Syndrome. [PDF]

Surg Case Rep
Yokoyama Y, Ito T, Matsumoto Y, Shimizu H.   +3 more
europepmc   +1 more source

The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study. [PDF]

Orphanet J Rare Dis
Böker T, Kirkhus E, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R.   +6 more
europepmc   +1 more source